Dr. Sin?ad Hickey:

I thank the committee for the invitation to speak on health services for people with EB on the eve of Rare Disease Day. As the Chair said, I am head of advocacy, research and policy at Debra. I am joined by my Ms Callis and Dr. Watson, who is the former director of EB services in Ireland.

Debra is a charity that provides support for people living with this extremely painful, rare and incurable genetic skin condition called EB. People living with EB are missing proteins that bind the layers of their skin together, so any minor friction causes it to break and blister. In some cases, EB can also affect the internal organs, causing internal injuries. An average of 300 people in Ireland live with the condition.

Different forms of EB vary in severity. They all carry debilitating life-limiting symptoms and pain with implications for well-being and quality of life. It is an extremely complex condition that can require intensive specialised care. Wound management is of particular importance to prevent the development of secondary infections, cancer and loss of limbs. In some cases, people need three to four hours of extremely distressing, painful bandage changes every other day.

A 39-year-old woman living with one of the worst forms of EB is best placed to describe the impact of bandage changes. Her condition is so severe it has led to limb loss as a result of EB-related skin cancer. She said, “I [dread] my mother coming into the room because the pain you endure, there are actually no words in the dictionary.” These necessary bandage changes must often be undertaken by relatives, and this has a significant impact on the quality of life of the family and carers too. A mother who cares for her 20-year-old daughter, who also lives with one of the worst forms of EB, describes the condition as having a profound effect on the physical and mental health not only of the person living with it but also their family members.

These experiences are in line with the findings of our report, which we launched with the University of Limerick at the end of 2023. This report reviews the evidence related to the impact EB has on the quality of life for people living with this condition. It also examines access to services and supports across five countries, including Ireland. We identified a set of key recommendations based on the results of this research, some of which we will discuss today.

The research finds that people with EB in Ireland have access to excellent support in the specialist clinics in Children’s Health Ireland at Crumlin and St. James’s Hospital and community health teams. I wish to commend the work of those dedicated teams. However, many families continue to face significant challenges and unmet need for support while managing this difficult condition. Dr. Fiona Browne, lead dermatologist for the paediatric EB service in Ireland, said:

As physicians, it is incredibly frustrating to have nothing to offer patients other than supportive care. While there are treatments on the horizon, they are still some years away. We therefore need to ensure that the supportive care that we do offer is of the best standards, equitable and accessed without obstacles.

The report found that challenges remain in the context of the unreliable provision of home nursing care for people with EB, including the lack of a contingency plan for when nursing staff are unavailable or move on. As a result, family members often have to step in and perform bandage changes, inflicting tremendous pain and damaging fragile relationships, often between mother and child. To try to address this urgent need, Debra currently supplements nursing care at home for people who are in most need. However, we are seeking ring-fenced funding and a commitment to recruit for these hours and establish a sustainable service to ensure that people with severe EB can access this essential service in line with their growing needs.

The report also highlights the significant impact of EB on the mental health and quality of life of those with EB and their families. This condition can lead to a loss of mobility, impact on daily tasks and lead to social isolation or loss of work opportunities. This can have a significant impact on mental health. In fact, our findings show that people with EB have far higher rates of anxiety and depression compared with the general population.

As a key feature of this condition is living with the ongoing pain and distressing wound management practices, we advocate for specialist supports to help cope with this debilitating condition. A key recommendation based on the research was that extra funding should be provided to help appoint a clinical psychologist dedicated to supporting adults with EB.

The findings of the report clearly outline the burden of disease and emotional and social costs of this debilitating condition as well as informs our asks for ring-fenced funding and a commitment to recruit for a sustainable service and dedicated specialist support to meet the particular needs of those living with EB and the people who care for them.

We hope the findings of the report can inform the implementation of the recently published HSE document entitled National Rare Disease Office Inherited Epidermolysis Bullosa (EB) Paediatric and Adult Care Pathway, which is crucial in outlining the breadth of support needed by people with EB across acute and community settings, as well as the HSE rare disease plan currently being developed. To further support this goal, we are currently developing a second project aimed solely at generating in-depth evidence on access to EB services and supports in the Irish context to identify strengths, challenges and gaps in provision. We would welcome the opportunity to return to the Joint Committee on Health next year to present our findings and to outline any developments that may occur in the interim.

EB does not wait. It continues to wreak havoc on people and their families living with the condition in Ireland daily. We hope these people can be granted the much-needed services I mentioned while waiting for the HSE care pathway to be implemented. We are grateful to the Minister of State, Deputy Rabbitte, for her support, which has led to the nomination of Debra as an organisation to receive some supports in the current health service plan that will go some way to relieve the pressures to deliver care for children with EB. We still need significantly more support for specialist health services in order that we do not leave anyone suffering with this rare and complex condition with unmet needs.

We thank the health committee for inviting us to talk about our report findings and its implications for the needs of people with EB and their families. We welcome the opportunity to discuss this topic further and answer any questions members may have.